Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report

Becker muscular dystrophy (BMD) is caused by specific mutations in the DMD gene that causes progressive muscle weakness and primarily affects skeletal and cardiac muscle. Although cardiac involvement is a significant cause of mortality in BMD, the genetic–phenotype correlation for skeletal and cardi...

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Detalles Bibliográficos
Publicado en:J Hum Genet
Main Authors: Komaki, Ryouhei, Hashimoto, Yasumasa, Mori-Yoshimura, Madoka, Oya, Yasushi, Takizawa, Hotake, Minami, Narihiro, Nishino, Ichizo, Aoki, Yoshitsugu, Takahashi, Yuji
Formato: Artigo
Idioma:Inglês
Publicado: Springer Singapore 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7449875/
https://ncbi.nlm.nih.gov/pubmed/32504006
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0788-9
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